Dehydrodolichyl diphosphate synthase: Difference between revisions
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== Clinical significance == | == Clinical significance == | ||
It has been suggested that [[missense mutation]]s in the DHDDS gene are responsible for certain variants of [[retinitis pigmentosa]].<ref name="pmid21295282">{{cite journal | vauthors = Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D | title = A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews | journal = Am. J. Hum. Genet. | volume = 88 | issue = 2 | pages = 207–15 |date=February 2011 | pmid = 21295282 | pmc = 3035703 | doi = 10.1016/j.ajhg.2011.01.002 }}</ref> Since it is involved in the early steps of dolichol synthesis, vital ''e.g.'' for correct ''N''-glycosylation, a disease caused by mutations in DHDDS should be considered a [[congenital disorder of glycosylation]] (and named DHDDS-CDG according to the novel nomenclature of CDGs).<ref name="pmid19765534">{{cite journal | vauthors = Jaeken J, Hennet T, Matthijs G, Freeze HH | title = CDG nomenclature: time for a change! | journal = Biochim. Biophys. Acta | volume = 1792 | issue = 9 | pages = 825–6 |date=September 2009 | pmid = 19765534 | doi = 10.1016/j.bbadis.2009.08.005 }}</ref> | It has been suggested that [[missense mutation]]s in the DHDDS gene are responsible for certain variants of [[retinitis pigmentosa]].<ref name="pmid21295282">{{cite journal | vauthors = Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D | title = A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews | journal = Am. J. Hum. Genet. | volume = 88 | issue = 2 | pages = 207–15 |date=February 2011 | pmid = 21295282 | pmc = 3035703 | doi = 10.1016/j.ajhg.2011.01.002 }}</ref> Since it is involved in the early steps of dolichol synthesis, vital ''e.g.'' for correct ''N''-glycosylation, a disease caused by mutations in DHDDS should be considered a [[congenital disorder of glycosylation]] (and named DHDDS-CDG according to the novel nomenclature of CDGs).<ref name="pmid19765534">{{cite journal | vauthors = Jaeken J, Hennet T, Matthijs G, Freeze HH | title = CDG nomenclature: time for a change! | journal = Biochim. Biophys. Acta | volume = 1792 | issue = 9 | pages = 825–6 |date=September 2009 | pmid = 19765534 | doi = 10.1016/j.bbadis.2009.08.005 }}</ref> Many CDG subtypes present with [[retinitis pigmentosa]] as a major feature.<ref name="pmid22516080">{{cite journal | vauthors = Freeze HH, Eklund EA, Ng BG, Patterson MC | title = Neurology of inherited glycosylation disorders | journal = Lancet Neurol. | volume = 11 | issue = 5 | pages = 453–66 |date=May 2012 | pmid = 22516080 | doi=10.1016/S1474-4422(12)70040-6| pmc = 3625645 }}</ref> | ||
==References== | ==References== | ||
Latest revision as of 20:43, 7 July 2018
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Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene.[1][2]
Function
Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins.[2]
Clinical significance
It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa.[3] Since it is involved in the early steps of dolichol synthesis, vital e.g. for correct N-glycosylation, a disease caused by mutations in DHDDS should be considered a congenital disorder of glycosylation (and named DHDDS-CDG according to the novel nomenclature of CDGs).[4] Many CDG subtypes present with retinitis pigmentosa as a major feature.[5]
References
- ↑ Endo S, Zhang YW, Takahashi S, Koyama T (Feb 2003). "Identification of human dehydrodolichyl diphosphate synthase gene". Biochim Biophys Acta. 1625 (3): 291–5. doi:10.1016/S0167-4781(02)00628-0. PMID 12591616.
- ↑ 2.0 2.1 "Entrez Gene: DHDDS dehydrodolichyl diphosphate synthase".
- ↑ Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D (February 2011). "A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews". Am. J. Hum. Genet. 88 (2): 207–15. doi:10.1016/j.ajhg.2011.01.002. PMC 3035703. PMID 21295282.
- ↑ Jaeken J, Hennet T, Matthijs G, Freeze HH (September 2009). "CDG nomenclature: time for a change!". Biochim. Biophys. Acta. 1792 (9): 825–6. doi:10.1016/j.bbadis.2009.08.005. PMID 19765534.
- ↑ Freeze HH, Eklund EA, Ng BG, Patterson MC (May 2012). "Neurology of inherited glycosylation disorders". Lancet Neurol. 11 (5): 453–66. doi:10.1016/S1474-4422(12)70040-6. PMC 3625645. PMID 22516080.
Further reading
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Jones J, Viswanathan K, Krag SS, Betenbaugh MJ (2005). "Polyprenyl lipid synthesis in mammalian cells expressing human cis-prenyl transferase". Biochem. Biophys. Res. Commun. 331 (2): 379–83. doi:10.1016/j.bbrc.2005.03.181. PMID 15850770.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Kharel Y, Takahashi S, Yamashita S, Koyama T (2004). "In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system". Biochem. Biophys. Res. Commun. 318 (1): 198–203. doi:10.1016/j.bbrc.2004.04.007. PMID 15110773.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Shridas P, Rush JS, Waechter CJ (2004). "Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells". Biochem. Biophys. Res. Commun. 312 (4): 1349–56. doi:10.1016/j.bbrc.2003.11.065. PMID 14652022.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.